ADAMTS13
LOCUS ID11093
GENE_SYMBOLADAMTS13
GENE NAMEADAM metallopeptidase with thrombospondin type 1 motif, 13
SYNONYMNSVWFCP, C9orf8, vWF-CP, ADAM-TS13, ADAMTS-13
CHROMOSOME9
HOMOLOGENE ID16372
microRNAsNANA
GENE SUMMARY
This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteise domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Recent studies have shown that increased plasma levels of Von Willebrand factor (VWF) and reduced plasma levels of enzyme ADAMTS13 are associated with diabetic nephropathy and an increased risk of developing cardiovascular disease, suggesting that these markers of hypercoagulability may contribute to an increased risk of cardiovascular disease in diabetic patients with impaired renal function.23159842